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Search Results: 2 unique variants retrieved


Variant No. 41
p.(Ser42=) (Legacy AA No. 24)
Variant Type:
Point
Genomic:
10716C>T
Codon Change:
AGC AGT
Variant Effect:
Silent
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 40
p.(Ser42Arg) (Legacy AA No. 24)
Variant Type:
Point
Genomic:
10716C>G
Codon Change:
AGC AGG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show